Canonical Allele Identifier: CA347284470

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799652A>T (hg19) ; chr2:g.73572525A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572525A>T , CM000664.2:g.73572525A>T	GRCh38
NC_000002.11:g.73799652A>T , CM000664.1:g.73799652A>T	GRCh37
NC_000002.10:g.73653160A>T	NCBI36
NG_011690.1:g.191773A>T , LRG_741:g.191773A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10267A>T	ENSP00000507671.1:p.Ile3423Phe
ENST00000682801.1:c.10267A>T	ENSP00000507862.1:p.Ile3423Phe
ENST00000682859.1:c.10267A>T	ENSP00000508222.1:p.Ile3423Phe
ENST00000683791.1:c.3353A>T
ENST00000684460.1:c.7548A>T
ENST00000684548.1:c.10267A>T	ENSP00000507421.1:p.Ile3423Phe
ENST00000684590.1:c.4714A>T	ENSP00000507376.1:p.Ile1572Phe
ENST00000684656.1:c.7593A>T
ENST00000613296.6:c.10648A>T MANE Select	ENSP00000482968.1:p.Ile3550Phe
ENST00000651057.1:c.802A>T	ENSP00000498504.1:p.Ile268Phe
ENST00000651434.1:c.2004A>T
ENST00000651750.1:c.36A>T
ENST00000652487.1:c.1745A>T
ENST00000423048.5:c.4139A>T	ENSP00000399833.1:n.4139A>T
ENST00000484298.5:c.10522A>T	ENSP00000478155.1:p.Ile3508Phe
ENST00000613296.4:c.10648A>T	ENSP00000482968.1:p.Ile3550Phe
ENST00000614410.4:c.10648A>T	ENSP00000479094.1:p.Ile3550Phe
ENST00000620466.4:n.4451A>T
NM_015120.4:c.10651A>T , LRG_741t1:c.10651A>T	NP_055935.4:p.Ile3551Phe
NM_001378454.1:c.10648A>T MANE Select	NP_001365383.1:p.Ile3550Phe